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Canonical Allele Identifier: Get Identifier
Gene: MKS1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000376827.2:p.[Pro553_Ser554insLeuGluProTrp;Gly555_Leu557delinsProSerSerGlnGlnProTrpProThr;Ser559delinsGlnGluAspLysMetGlyAspIle]
CA2838231695
ENST00000393119.7:c.1659del